Академический Документы
Профессиональный Документы
Культура Документы
Genomes can be mapped by a number of techniques, including linkage and restriction maps and
DNA sequencing.
o Linkage maps are based on the frequency of recombination between genetic markers;
restriction maps are based on the physical distances between markers.
Genetic polymorphism is observed in individual genomes due to the coexistence of multiple
alleles at a given locus.
o Polymorphism may be detected at the phenotypic level when a sequence affects gene
function, at the restriction fragment level when it affects a restriction enzyme target
site, and at the sequence level by direct analysis of DNA.
o The alleles of a gene show extensive polymorphism at the sequence level, but many
sequence changes do not affect function.
Restriction fragment length polymorphisms (RFLPs; a difference in restriction maps between
two individuals) and single nucleotide polymorphisms (SNPs) can be very useful for genetic
mapping of disease genes for which a genetic linkage is known but for which the gene has not
yet been identified.
o They are also useful for establishing parent–offspring relationships and DNA
fingerprinting.
o Every individual has a unique set of SNPs and RFLPs in any given region, called a
haplotype.
Genomes tend to be much larger than what is needed to encode the necessary proteins and
other functions, and in higher eukaryotes a large amount of repetitive DNA elements is
common.
o A significant part of repetitive DNA consists of transposons, short sequences of DNA
that have the ability to move to new locations in the genome and/or to make additional
copies of themselves.
Exon regions of genes tend to be conserved, whereas introns and intergenic regions tend to not
be conserved.
o Observation of conserved sequenced in different organisms can help identify coding
regions.
o The conservation of exons can be used to identify protein-coding genes in diseases such
as Duchenne muscular dystrophy (DMD).
o Techniques such as chromosome walking and exon trapping can also be used to identify
disease genes.
Reverse transcriptase PCR (RT-PCR) and expressed sequence tag (EST) analysis can be used to
confirm that a particular DNA sequence is indeed transcribed, and is not a pseudogene.
o Comparison between different genomes can help confirm gene prediction.
Mitochondria and chloroplasts contain extranuclear genomes with characteristics of bacterial
genomes, reflective of their endosymbiotic origin.
o They have genomes that show non-Mendelian inheritance and are typically maternally
inherited (all copies of the organelle genome are inherited solely from the female
parent).
o Comparisons of mitochondrial DNA sequences in a range of human populations allow an
evolutionary tree to be constructed that implies that human mitochondrial DNA is
descended from a single population that lived in Africa ~200,000 years ago.
Organelle genomes are usually (but not always) circular molecules of DNA that encode for some
(but not all) of the proteins used in the organelle.
o Chloroplast genomes vary in size, but are large enough to encode 50 to 100 proteins as
well as the rRNAs and tRNAs.
o Mitochondrial genomes range widely in size between different classes of organisms,
being very compact in animals and very large in fungi and plants.
o Animal mtDNA genomes are highly compact and conserved except for the variable D-
loop region involved in replication and transcription.
Phylogenetic analysis of these genome sequences show close relationships with bacterial
genomes, supporting an endosymbiotic origin for these organelles from a bacterial ancestor.
Interactive Media
Chapter 5: The Content of the Genome